Canonical Allele Identifier: CA1619898378
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33174410C= , CM000668.2:g.33174410C= GRCh38
NC_000006.11:g.33142187C= , CM000668.1:g.33142187C= GRCh37
NC_000006.10:g.33250165C= NCBI36
NG_011589.1:g.23059G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361917.6:c.1003+117G=
ENST00000341947.7:c.2430+117G= MANE Select ENSP00000339915.2:n.2430+117G=
ENST00000341947.6:c.2430+117G= ENSP00000339915.2:n.2430+117G=
ENST00000361917.5:c.2109+117G= ENSP00000355123.1:n.2109+117G=
ENST00000374708.8:c.2172+117G= ENSP00000363840.4:n.2172+117G=
ENST00000477772.1:n.272+2599G=
NM_080679.2:c.2109+117G= NP_542410.2:n.2109+117G=
NM_080680.2:c.2430+117G= NP_542411.2:n.2430+117G=
NM_080681.2:c.2172+117G= NP_542412.2:n.2172+117G=
XM_011514298.1:c.1584+117G= XP_011512600.1:n.1584+117G=
XM_011514299.1:c.1716+117G= XP_011512601.1:n.1716+117G=
XM_011514300.1:c.1536+117G= XP_011512602.1:n.1536+117G=
XM_011514301.1:c.1473+117G= XP_011512603.1:n.1473+117G=
XM_011514302.1:c.1317+117G= XP_011512604.1:n.1317+117G=
XM_011514299.2:c.1716+117G= XP_011512601.1:n.1716+117G=
XM_011514300.2:c.1536+117G= XP_011512602.1:n.1536+117G=
XM_011514302.2:c.1317+117G= XP_011512604.1:n.1317+117G=
XM_017010250.1:c.2430+117G= XP_016865739.1:n.2430+117G=
XM_017010251.2:c.1248+117G= XP_016865740.1:n.1248+117G=
NM_080680.3:c.2430+117G= MANE Select NP_542411.2:n.2430+117G=
NM_080681.3:c.2172+117G= NP_542412.2:n.2172+117G=
NM_080679.3:c.2109+117G= NP_542410.2:n.2109+117G=